Annotation Detail
Information
- Associated Genes
- MMP2
- Associated Variants
-
rs2285053
(
ENST00000570308.5 )
rs3918242
ENSG00000285082 c.140+4295A>G, TLR4 p.Asp299Gly (p.D299G) ( ENST00000355622.8, ENST00000394487.5, ENST00000472304.2 )
rs2285053 ( ENST00000570308.5 )
rs3918242
ENSG00000285082 c.140+4295A>G, TLR4 p.Asp299Gly (p.D299G) ( ENST00000355622.8, ENST00000394487.5, ENST00000472304.2 )
ENSG00000264813 c.584-120_584-119insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC, ACE c.2306-120_2306-119insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC
ENSG00000264813 c.584-120_584-119insG, ACE c.2306-120_2306-119insG
ENSG00000264813 c.584-120_584-119insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC, ACE c.2306-120_2306-119insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC
ENSG00000264813 c.584-120_584-119insG, ACE c.2306-120_2306-119insG - Associated Disease
- Aortic Aneurysm, Thoracic
- Source Database
- DisGeNET
- Description
- Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility for sporadic TAA (OR = 14.4, P = 0.0008) and it represents, together with rs1799752 ACE, rs3918242 MMP-9, and rs2285053 MMP-2 SNPs, an independent sporadic TAA risk factor.
- Pubmed
- 25120286
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.200814325616241
- Year of publication
- 2014
Drugs